rs568513106
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs568513106(C;C) |
Make rs568513106(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 56870699 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs568513106 |
dbSNP (classic) | rs568513106 |
ClinGen | rs568513106 |
ebi | rs568513106 |
HLI | rs568513106 |
Exac | rs568513106 |
Gnomad | rs568513106 |
Varsome | rs568513106 |
LitVar | rs568513106 |
Map | rs568513106 |
PheGenI | rs568513106 |
Biobank | rs568513106 |
1000 genomes | rs568513106 |
hgdp | rs568513106 |
ensembl | rs568513106 |
geneview | rs568513106 |
scholar | rs568513106 |
rs568513106 | |
pharmgkb | rs568513106 |
gwascentral | rs568513106 |
openSNP | rs568513106 |
23andMe | rs568513106 |
SNPshot | rs568513106 |
SNPdbe | rs568513106 |
MSV3d | rs568513106 |
GWAS Ctlg | rs568513106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs568513106(C;C) |
Alt | rs568513106(C;C) |
Reference | Rs568513106(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia |
Reversed | 0 |
HGVS | NC_000016.9:g.56904611T>C |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191129.1, |